Thumb stiffness-brachydactyly-intellectual disability syndrome

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Thumb stiffness-brachydactyly-intellectual disability syndrome

Synonyms: Piussan-Lenaerts-Mathieu syndrome

A rare genetic congenital limb malformation syndrome characterized by bilateral thumb ankylosis type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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